Features include very common findings: Intellectual disability, Global developmental delay, and Abnormal facial shape; and common findings: Abnormality of the genital system, Atypical behavior, Overgrowth, and Abnormal heart morphology and others. 50 total HPO annotations.

Phenotype severity distribution: 3 very common features, 6 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

No clinical trials have been registered for Kleefstra syndrome due to a point mutation.

3 publications have been identified in PubMed for Kleefstra syndrome due to a point mutation. Research spans Review / Meta-Analysis (67%) and Case Report / Case Series (33%).

Recent Publications

• Rezazadeh S (2025). [PMID: 40469903](https://pubmed.ncbi.nlm.nih.gov/40469903/). *Front Mol Neurosci*. [Review / Meta-Analysis]

• Giliberti A (2025). [PMID: 40394668](https://pubmed.ncbi.nlm.nih.gov/40394668/). *Ital J Pediatr*. [Case Report / Case Series]

• Moyal M (2025). [PMID: 40400398](https://pubmed.ncbi.nlm.nih.gov/40400398/). *Eur Psychiatry*. [Review / Meta-Analysis]